Knowledge base for genomic medicine in Japanese
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不整脈原性右室心筋症
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_001005242.3(PKP2):c.1627del (p.Val543fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32977026 | 32977026 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011381 |
| Deletion | NM_001005242.3(PKP2):c.1628del (p.Val543fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32977025 | 32977025 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011392 |
| Duplication | NM_001005242.3(PKP2):c.1689dup (p.Val564fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32975550 | 32975551 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA011453 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) | PKP2 | Pathogenic | 12 | 32975460 | 32975460 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011554 |
| Duplication | NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) | PKP2 | Pathogenic | 12 | 32975416 | 32975417 | G | GCTTC | criteria provided, multiple submitters, no conflicts | ClinGen:CA261697 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) | PKP2 | Pathogenic | 12 | 32974436 | 32974436 | C | A | criteria provided, single submitter | ClinGen:CA011616 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) | PKP2 | Likely pathogenic | 12 | 32974316 | 32974316 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011724 |
| Indel | NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) | PKP2 | Pathogenic | 12 | 32955434 | 32955439 | GGTGTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011777 |
| Indel | NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32949194 | 32949198 | CAGGA | ACTG | criteria provided, multiple submitters, no conflicts | ClinGen:CA011929 |
| single nucleotide variant | NM_001005242.3(PKP2):c.2357+1G>T | PKP2 | Pathogenic/Likely pathogenic | 12 | 32949042 | 32949042 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012097 |
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